Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IQCM_chr4_149346709_149820843	149406900	TGGCTGGG others(78): Show TGGCTGGGGAGGCCTCATGATCATGGTGGAAGGCGAAAGGCACGTTTTAC ATGGTGGCAGGCAAGATAGAATGAGAGCCAAGTGAA	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0252 a0001c0001t0004g0252	1	252	0.0040	-85	c.139 others(106): Show c.1390+26411_1390+26495delTTCACTTGGCTCTCATTCTATCTT GCCTGCCACCATGTAAAACGTGCCTTTCGCCTTCCACCATGATCATGAGG CCTCCCCAGCC	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
ITGA9_chr3_37447141_37828507	37512100	CCTTCCTT others(78): Show CCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02622.hp1 HG02647.hp2 others(3): Show HG01981.hp1 HG02622.hp1 HG02647.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0004 a0004c0009 others(1): Show a0002c0002 a0002c0004 a0004c0009 a0004c0026	a0002c0002t0005 a0002c0004t0005 a0004c0009t0002 others(2): Show a0002c0002t0005 a0002c0004t0005 a0004c0009t0002 a0004c0009t0003 a0004c0026t0029	a0002c0002t0005g0158 a0002c0004t0005g0107 a0004c0009t0002g0106 others(3): Show a0002c0002t0005g0158 a0002c0004t0005g0107 a0004c0009t0002g0106 a0004c0009t0003g0102 a0004c0009t0003g0103 a0004c0026t0029g0154	6	168	0.0357	-85	c.898 others(102): Show c.898-1662_898-1578delCTTCCTTCCTTCCTTCCTTCTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27			chr3	TogoVar
KBTBD11_chr8_1968677_2011936	1969094	CATCTATT others(78): Show CATCTATTTTACATGTTTCAGATTTAAAACATATATTTTATATGTTTTAG ATTTAAAACATAAATTTATATATAAAATATATATTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0024 a0001c0001t0006g0002 a0001c0001t0006g0024	2	389	0.0051	-85	c.-57 others(96): Show c.-5749_-5665delATCTATTTTACATGTTTCAGATTTAAAACATATA TTTTATATGTTTTAGATTTAAAACATAAATTTATATATAAAATATATATT T	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		4582		chr8	TogoVar
KCNH7_chr2_162366407_162843767	162752903	AAAAAGAA others(78): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02615.hp2 others(6): Show HG02451.hp1 HG02559.hp1 HG02615.hp2 HG02895.hp1 HG02897.hp2 HG03486.hp2 HG03516.hp2 NA18965.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0003 a0002c0002t0001 a0001c0001t0001 a0001c0003t0003 a0002c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0040 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0003t0003g0100 a0002c0002t0001g0027 a0002c0002t0001g0076	9	100	0.0900	-85	c.307 others(104): Show c.307+83549_307+83633delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTT	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KIF26B_chr1_245149985_245714432	245619080	AGGTTCCT others(78): Show AGGTTCCTTGAGACAGAGTGCCACAGTGCTGGGGCTGTGTCTGCTGCGTG CTGTTGGTGAGCTTGTCCAAGCCCTATTAAACTATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp2 HG02809.hp2 others(5): Show HG01243.hp1 HG02723.hp2 HG02809.hp2 HG02922.hp2 HG03540.hp1 HG03579.hp1 NA19030.hp1 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0012	a0001c0001 a0001c0002 a0001c0020 others(4): Show a0001c0001 a0001c0002 a0001c0020 a0001c0057 a0002c0008 a0004c0011 a0012c0036	a0001c0001t0037 a0001c0002t0043 a0001c0020t0013 others(4): Show a0001c0001t0037 a0001c0002t0043 a0001c0020t0013 a0001c0057t0027 a0002c0008t0006 a0004c0011t0020 a0012c0036t0011	a0001c0001t0037g0119 a0001c0002t0043g0109 a0001c0020t0013g0086 others(5): Show a0001c0001t0037g0119 a0001c0002t0043g0109 a0001c0020t0013g0086 a0001c0057t0027g0080 a0002c0008t0006g0095 a0004c0011t0020g0152 a0004c0011t0020g0154 a0012c0036t0011g0135	8	160	0.0500	-85	c.209 others(104): Show c.2098+7121_2098+7205delGTGCCACAGTGCTGGGGCTGTGTCTG CTGCGTGCTGTTGGTGAGCTTGTCCAAGCCCTATTAAACTATGGGTTCCT TGAGACAGA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245619097	GTGCCACA others(78): Show GTGCCACAGTGCTGGGGCTGTGTCTGCTGCGTGCTGTTGGTGAGCTTGTC CAAGCCCTATTAAACTATGGGTTCCTTGAGACAGAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0112 a0002c0003t0004g0112	1	160	0.0063	-85	c.209 others(104): Show c.2098+7183_2098+7267delAACTATGGGTTCCTTGAGACAGACTG CCACAGTGCTGGGGCTGTGTCTGCTGCGTGCTGTTGGTGAGCTTGTCCAA GCCCTATTA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KRR1_chr12_75485863_75516609	75499180	GTTGCCAC others(78): Show GTTGCCACAGGTGGACTTTTAGTAAGTAACCTAACCCATGTTTCAGCTTC TAAATCTGCAAAATGAGCAAGGTACAGTAGCACATT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0080 a0001c0003t0080	a0001c0003t0080g0075 a0001c0003t0080g0075	1	368	0.0027	-85	c.54 others(94): Show c.544_*628delAATGTGCTACTGTACCTTGCTCATTTTGCAGATTTA GAAGCTGAAACATGGGTTAGGTTACTTACTAAAAGTCCACCTGTGGCAA	KRR1	ENSG00000111615.14	transcript	ENST00000229214.9	protein_coding	10/10	544		chr12	TogoVar
LCN12_chr9_136947273_136960497	136957458	GTGGGTGG others(78): Show GTGGGTGGGTGGATGGATGGTTGGATGATGGGTGGGTGGGTGGATGGTTG GATGATGGGTGGGTGGGTGGATGGATGGTTGGATGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	382	0.0026	-85	c.20 others(96): Show c.2060_*2144delTGGGTGGGTGGATGGATGGTTGGATGATGGGTGG GTGGGTGGATGGTTGGATGATGGGTGGGTGGGTGGATGGATGGTTGGATG A	LCN12	ENSG00000184925.12	transcript	ENST00000371633.8	protein_coding		1962		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769229	ACCCCCCC others(78): Show ACCCCCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCTCCATGCACT GCCCCCCCGCCACCCCGCCACCCCTCCATGCACTGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	356	0.0028	-85	c.-48 others(96): Show c.-4826_-4742delGCAGTGCATGGAGGGGTGGCGGGGTGGCGGGGGG GCAGTGCATGGAGGGGTGGCGGGGTGGCGGGGGGGGCAGTGCATGGGGGG G	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4712		chr9	TogoVar
LHFPL3_chr7_104323603_104913561	104430386	ATATATAT others(78): Show ATATATATATATATATATACATATATATATATACATATATATATATATAT ATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19043.hp2 HG02809.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0080 a0001c0001t0010g0007 a0001c0001t0002g0080 a0001c0001t0010g0007	2	86	0.0233	-85	c.445 others(106): Show c.445+101164_445+101248delATATATATATATATATACATATAT ATATATACATATATATATATATATATATATATATATATATATATTTTTTT TTTTTTTTTTT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104430388	ATATATAT others(78): Show ATATATATATATATATACATATATATATATACATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 NA19030.hp1 HG01884.hp1 HG02559.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0010 a0001c0002t0005 a0001c0001t0007 a0001c0001t0010 a0001c0002t0005	a0001c0001t0007g0004 a0001c0001t0010g0015 a0001c0002t0005g0085 a0001c0001t0007g0004 a0001c0001t0010g0015 a0001c0002t0005g0085	3	86	0.0349	-85	c.445 others(106): Show c.445+101166_445+101250delATATATATATATATACATATATAT ATATACATATATATATATATATATATATATATATATATATATTTTTTTTT TTTTTTTTTTT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LIPI_chr21_14103813_14215955	14161737	TTATATAT others(78): Show TTATATATTAATATATAATATATACATTATTATATATTAATATATAATAT ATACATTATTATATATTAATGTATAATATATACAAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01256.hp1 HG02647.hp2 others(3): Show HG00621.hp2 HG01256.hp1 HG02647.hp2 HG02717.hp1 HG03209.hp2 HG03471.hp1	a0003 a0005 a0014 a0003 a0005 a0014	a0003c0005 a0005c0004 a0014c0022 a0003c0005 a0005c0004 a0014c0022	a0003c0005t0002 a0005c0004t0002 a0014c0022t0002 a0003c0005t0002 a0005c0004t0002 a0014c0022t0002	a0003c0005t0002g0276 a0005c0004t0002g0105 a0005c0004t0002g0114 others(3): Show a0003c0005t0002g0276 a0005c0004t0002g0105 a0005c0004t0002g0114 a0005c0004t0002g0118 a0005c0004t0002g0232 a0014c0022t0002g0022	6	362	0.0166	-85	c.100 others(104): Show c.1006+1597_1006+1681delTTTGTATATATTATACATTAATATAT AATAATGTATATATTATATATTAATATATAATAATGTATATATTATATAT TAATATATA	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding	7/9			chr21	TogoVar
LMF2_chr22_50497949_50512702	50504100	CCCCCAGT others(78): Show CCCCCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCCACACCCCACCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0017 a0002c0008t0002g0017	2	414	0.0048	-85	c.171 others(102): Show c.1718+155_1719-197delTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGTGGGGTGTGGAGCCTGGGGTGCAGGGGTAAGGCCGGGC ACTGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMX1A_chr1_165196867_165361715	165347932	TTAGAGAA others(78): Show TTAGAGAAACAGCTCCTGCTCACTCTCTCCAAAAACCTTCCCAGAATTAA AAAGCAACAATCAAGAGGCTTCCCTGAAATTAGTAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01071.hp1 HG01346.hp1 others(31): Show HG00597.hp1 HG01071.hp1 HG01346.hp1 HG01433.hp2 HG01943.hp2 HG02004.hp1 HG02056.hp2 HG02293.hp2 HG02300.hp2 HG02698.hp1 HG03669.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18941.hp1 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18970.hp2 NA18972.hp2 NA18979.hp2 NA18992.hp1 NA19002.hp2 NA19009.hp2 NA19011.hp1 NA19060.hp1 NA19080.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0018 a0001c0001t0034 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0032 a0001c0008t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0176 others(31): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0003g0070 a0001c0001t0003g0185 a0001c0001t0003g0198 a0001c0001t0005g0189 a0001c0001t0005g0192 a0001c0001t0006g0199 a0001c0001t0009g0016 a0001c0001t0018g0217 a0001c0001t0034g0180 a0001c0002t0001g0030 a0001c0002t0001g0069 a0001c0002t0001g0178 a0001c0002t0001g0195 a0001c0002t0006g0200 a0001c0002t0007g0181 a0001c0002t0007g0184 a0001c0002t0032g0182 a0001c0008t0001g0186	34	288	0.1181	-85	c.263 others(102): Show c.263+5059_263+5143delTTACTAATTTCAGGGAAGCCTCTTGATT GTTGCTTTTTAATTCTGGGAAGGTTTTTGGAGAGAGTGAGCAGGAGCTGT TTCTCTA	LMX1A	ENSG00000162761.14	transcript	ENST00000342310.7	protein_coding	3/8			chr1	TogoVar
LPP_chr3_188149157_188895671	188785450	TTCCATCA others(78): Show TTCCATCATATATATATATTCCATCATATATATATATTCATCATATATAT ATATTCCATCATATATATATATATATATATTCCATC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03453.hp1 HG01256.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0051 a0002c0003t0029 a0001c0001t0051 a0002c0003t0029	a0001c0001t0051g0019 a0002c0003t0029g0059 a0001c0001t0051g0019 a0002c0003t0029g0059	2	76	0.0263	-85	c.141 others(106): Show c.1410+25169_1410+25253delTCCATCATATATATATATTCCATC ATATATATATATTCATCATATATATATATTCCATCATATATATATATATA TATATTCCATC	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11			chr3	TogoVar
LRRC14B_chr5_186495_201334	196550	CGAGTGTG others(78): Show CGAGTGTGTCCCCACCCCAGGGGGCCCCGTGTCACCCCCTCCCCAGGTGT GCCCCCACCCCTGCTGCCCTGTGTCACCCCCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0003 a0001c0001t0013g0003	1	470	0.0021	-85	c.11 others(96): Show c.1198_*1282delGAGTGTGTCCCCACCCCAGGGGGCCCCGTGTCAC CCCCTCCCCAGGTGTGCCCCCACCCCTGCTGCCCTGTGTCACCCCCTCCC G	LRRC14B	ENSG00000185028.4	transcript	ENST00000328278.4	protein_coding		217		chr5	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(78): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03486.hp1 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0021 a0001c0001t0001g0024	2	350	0.0057	-85	c.30 others(96): Show c.3079_*3163delCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCCGTATTC C	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
LUC7L_chr16_183990_234449	187173	GGGAACAG others(78): Show GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAATACCAACACGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	350	0.0029	-85	c.19 others(96): Show c.1940_*2024delTCCCGTGTTGGTATTCCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC C	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1816		chr16	TogoVar
MAFK_chr7_1525702_1548043	1526227	GGAGGAGA others(78): Show GGAGGAGAAGAAGAAGAAGAAGGGGGGGGAAAGGAGGAGAAGGAGAGGGA GGAGGAGTGAGAGGAGAAGGAGAAGAGGGGAGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0088 a0001c0001t0021g0088	1	380	0.0026	-85	c.-47 others(96): Show c.-4715_-4631delGAGGAGAAGAAGAAGAAGAAGGGGGGGGAAAGGA GGAGAAGGAGAGGGAGGAGGAGTGAGAGGAGAAGGAGAAGAGGGGAGGGG A	MAFK	ENSG00000198517.10	transcript	ENST00000343242.9	protein_coding		4474		chr7	TogoVar
MAF_chr16_79588838_79605737	79596332	CTTCAAAA others(78): Show CTTCAAAAAACAGCCTATAATTTCACCCTGAATTACTGTCTCCCTATTCC TCCAGGAATCCTTCCACTGGAGAAAAGGATGCATTT	C C	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0046 a0009c0007t0046	a0009c0007t0046g0256 a0009c0007t0046g0256	1	468	0.0021	-85	c.111 others(104): Show c.1119-1864_1119-1780delAAATGCATCCTTTTCTCCAGTGGAAG GATTCCTGGAGGAATAGGGAGACAGTAATTCAGGGTGAAATTATAGGCTG TTTTTTGAA	MAF	ENSG00000178573.7	transcript	ENST00000326043.5	protein_coding	1/1			chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051535	GCATGTGG others(78): Show GCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGAGTAAGGAGAGCTGC AAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0247 a0001c0001t0011g0247	1	424	0.0024	-85	c.28 others(96): Show c.2829_*2913delTGGGCCTTGCAGCTCTCCTTACCCACATGCGGCC TTGCAGCTCTCCTTACTCACATGCGGCCTTGCAGCTCTCCTTACCCACAT G	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2227		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051902	CCGCATGT others(78): Show CCGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGCGTAAGGAGAGC GGCAAGGCCCGCATGTGCGTAAGGAGAGCTGCAAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02572.hp2 HG02630.hp1 others(7): Show HG01433.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG03195.hp1 HG03225.hp2 NA18906.hp2 NA18974.hp2 NA19030.hp2 NA20129.hp1	a0001 a0010 a0013 a0001 a0010 a0013	a0001c0001 a0010c0022 a0013c0018 a0001c0001 a0010c0022 a0013c0018	a0001c0001t0006 a0010c0022t0003 a0013c0018t0006 a0001c0001t0006 a0010c0022t0003 a0013c0018t0006	a0001c0001t0006g0027 a0001c0001t0006g0189 a0001c0001t0006g0190 others(7): Show a0001c0001t0006g0027 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0195 a0001c0001t0006g0196 a0010c0022t0003g0377 a0013c0018t0006g0200	10	424	0.0236	-85	c.24 others(96): Show c.2462_*2546delCCTTGCAGCTCTCCTTACGCACATGCGGGCCTTG CCGCTCTCCTTACGCACATGCGGGCCTTGCAGCTCTCCTTACCCACATGC G	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		1860		chr16	TogoVar
MCF2L2_chr3_183173041_183433619	183185668	AGTAGCTC others(78): Show AGTAGCTCTCCAGAGCTCCCAACAGGAGAGAGTTCCAAAATGTTTCCAGG GGTACTAGGCTCGGTTACAATATTTTGCTTGGTGGC	A A	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0028 a0028	a0028c0034 a0028c0034	a0028c0034t0001 a0028c0034t0001	a0028c0034t0001g0104 a0028c0034t0001g0104	1	176	0.0057	-85	c.301 others(104): Show c.3017-5594_3017-5510delGCCACCAAGCAAAATATTGTAACCGA GCCTAGTACCCCTGGAAACATTTTGGAACTCTCTCCTGTTGGGAGCTCTG GAGAGCTAC	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	27/29			chr3	TogoVar
MECOM_chr3_169078507_169668712	169472495	AAGGAAAG others(78): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAAGAAAAGAAAAGGAAAGGA AAGGAAAAGAAAAGAGAGGAGAGGAGAGGAGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02723.hp2 HG03492.hp2 others(4): Show HG01081.hp1 HG02723.hp2 HG03492.hp2 HG04115.hp2 NA18943.hp1 NA18965.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 others(4): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0003t0003 a0001c0007t0001	a0001c0001t0006g0115 a0001c0001t0007g0127 a0001c0001t0016g0064 others(4): Show a0001c0001t0006g0115 a0001c0001t0007g0127 a0001c0001t0016g0064 a0001c0001t0017g0108 a0001c0001t0025g0004 a0001c0003t0003g0042 a0001c0007t0001g0054	7	160	0.0438	-85	c.38- others(102): Show c.38-91056_38-90972delCTCCTCTCCTCTCCTCTCCTCTCTTTTC TTTTCCTTTCCTTTCCTTTTCTTTTCTTTTCTTTCCTTTCCTTTCCTTTC CTTTCCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169472528	AAAAGAAA others(78): Show AAAAGAAAAGGAAAGGAAAGGAAAAGAAAAGAGAGGAGAGGAGAGGAGAG GAGAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01175.hp2 others(24): Show HG00738.hp1 HG01099.hp1 HG01175.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG02109.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp2 NA18943.hp2 NA18966.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0002c0002 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0030 a0001c0001t0040 a0001c0001t0051 a0001c0003t0002 a0001c0003t0009 a0001c0004t0052 a0001c0004t0054 a0001c0008t0003 a0001c0009t0007 a0002c0002t0001 a0002c0002t0005 a0002c0002t0006 a0002c0002t0024 a0002c0002t0027 a0002c0002t0039 a0002c0002t0043 a0004c0013t0002	a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0002g0083 others(24): Show a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0002g0083 a0001c0001t0004g0061 a0001c0001t0004g0070 a0001c0001t0005g0094 a0001c0001t0005g0104 a0001c0001t0006g0118 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0030g0011 a0001c0001t0040g0105 a0001c0001t0051g0156 a0001c0003t0002g0075 a0001c0003t0009g0140 a0001c0004t0052g0158 a0001c0004t0054g0160 a0001c0008t0003g0036 a0001c0009t0007g0132 a0002c0002t0001g0046 a0002c0002t0005g0102 a0002c0002t0006g0119 a0002c0002t0024g0003 a0002c0002t0027g0006 a0002c0002t0039g0093 a0002c0002t0043g0126 a0004c0013t0002g0074	27	160	0.1688	-85	c.38- others(102): Show c.38-91089_38-91005delCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTCTCCTCTCCTCTCCTCTCCTCTCTTTTCTTTTCCTTTCCTTTCCT TTTCTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151368614	TATTTTAT others(78): Show TATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTT CATTTCATTTCATGTCATTTCATTTTATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02056.hp2 NA18950.hp2 others(2): Show HG00408.hp2 HG02056.hp2 NA18950.hp2 NA18994.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0013 a0001c0001t0040 a0002c0003t0005 a0001c0001t0013 a0001c0001t0040 a0002c0003t0005	a0001c0001t0013g0277 a0001c0001t0040g0221 a0002c0003t0005g0222 others(2): Show a0001c0001t0013g0277 a0001c0001t0040g0221 a0002c0003t0005g0222 a0002c0003t0005g0266 a0002c0003t0005g0267	5	280	0.0179	-85	c.355 others(102): Show c.3550+368_3550+452delTATTTTATTTTATTTCATTTCATTTCAT TTCATTTCATTTCATTTCATTTCATTTCATGTCATTTCATTTTATTTCAT TTCATTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151368619	TATTTTAT others(78): Show TATTTTATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTT CATTTCATGTCATTTCATTTTATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0031 a0001c0032t0031	a0001c0032t0031g0129 a0001c0032t0031g0129	1	280	0.0036	-85	c.355 others(102): Show c.3550+373_3550+457delTATTTTATTTCATTTCATTTCATTTCAT TTCATTTCATTTCATTTCATTTCATGTCATTTCATTTTATTTCATTTCAT TTCATTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151368629	TATTTCAT others(78): Show TATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATGT CATTTCATTTTATTTCATTTCATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0001 a0001c0039t0001	a0001c0039t0001g0231 a0001c0039t0001g0231	1	280	0.0036	-85	c.355 others(102): Show c.3550+416_3550+500delTTCATTTCATGTCATTTCATTTTATTTC ATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTC ATTTCAT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MELTF_chr3_196996740_197034817	197030202	AGGGGGGA others(78): Show AGGGGGGAGCCGGGCAGGGGCATCTCGGCCACAGCTGCACAGAGGATCTG GGATACGGGGGAGCCCAGGCCGAGCGCCCTGGCGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00558.hp2 others(32): Show HG00099.hp1 HG00323.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp2 HG01069.hp1 HG01074.hp1 HG01123.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01515.hp1 HG02109.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 NA18939.hp1 NA18943.hp1 NA18972.hp2 NA18999.hp2 NA19004.hp1 NA19030.hp1 NA19056.hp1 NA19077.hp2 NA19079.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0022	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0002c0037 a0003c0006 a0004c0012 a0009c0038 a0022c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0025 a0001c0001t0053 a0001c0002t0004 a0001c0002t0006 a0001c0003t0005 a0002c0004t0001 a0002c0037t0005 a0003c0006t0002 a0003c0006t0020 a0004c0012t0006 a0009c0038t0001 a0022c0018t0003	a0001c0001t0001g0001 a0001c0001t0001g0106 a0001c0001t0002g0002 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0106 a0001c0001t0002g0002 a0001c0001t0002g0059 a0001c0001t0002g0179 a0001c0001t0003g0096 a0001c0001t0005g0003 a0001c0001t0005g0032 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0006g0115 a0001c0001t0011g0045 a0001c0001t0012g0265 a0001c0001t0025g0021 a0001c0001t0053g0191 a0001c0002t0004g0200 a0001c0002t0006g0053 a0001c0003t0005g0246 a0002c0004t0001g0109 a0002c0037t0005g0101 a0003c0006t0002g0112 a0003c0006t0020g0302 a0004c0012t0006g0107 a0009c0038t0001g0113 a0022c0018t0003g0291	35	420	0.0833	-85	c.-58 others(94): Show c.-585_-501delCTCGCCAGGGCGCTCGGCCTGGGCTCCCCCGTATCC CAGATCCTCTGTGCAGCTGTGGCCGAGATGCCCCTGCCCGGCTCCCCCC	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		386		chr3	TogoVar
MELTF_chr3_196996740_197034817	197030286	AGGGGGGA others(78): Show AGGGGGGAGCCGGGCAGGGGCATCTCGGCCACAGCTGCACAGAGGATCTG GGATACGGGGGAGCCCAGGCCGAGCGCCCTGGCGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	420	0.0024	-85	c.-66 others(94): Show c.-669_-585delCTCGCCAGGGCGCTCGGCCTGGGCTCCCCCGTATCC CAGATCCTCTGTGCAGCTGTGGCCGAGATGCCCCTGCCCGGCTCCCCCC	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		470		chr3	TogoVar
MELTF_chr3_196996740_197034817	197030370	AGGGGGGA others(78): Show AGGGGGGAGCCGGGCAGGGGCATCTCGGCCACAGCTGCACAGAGGATCTG GGATACGGGGGAGCCCAGGCCGAGCGCCCTGGCGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02451.hp2 others(13): Show HG01884.hp1 HG01891.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG03486.hp2 NA18522.hp1 NA18942.hp2 NA19010.hp2 NA19030.hp2 NA19088.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0009 a0001c0001 a0001c0002 a0002c0009	a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 others(5): Show a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0026 a0001c0002t0056 a0002c0009t0021	a0001c0001t0003g0078 a0001c0001t0006g0024 a0001c0001t0006g0025 others(11): Show a0001c0001t0003g0078 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0027 a0001c0001t0006g0073 a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0002t0001g0125 a0001c0002t0004g0152 a0001c0002t0009g0223 a0001c0002t0026g0123 a0001c0002t0056g0247 a0002c0009t0021g0087 a0002c0009t0021g0088	16	420	0.0381	-85	c.-75 others(94): Show c.-753_-669delCTCGCCAGGGCGCTCGGCCTGGGCTCCCCCGTATCC CAGATCCTCTGTGCAGCTGTGGCCGAGATGCCCCTGCCCGGCTCCCCCC	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		554		chr3	TogoVar
METRNL_chr17_83074609_83100122	83090400	CCCCCCGC others(78): Show CCCCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCCCGC CCCACACACACACCCCCCGCCCCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0381 a0001c0002t0001g0381	1	399	0.0025	-85	c.557 others(102): Show c.557-2746_557-2662delCCCCCGCCCCACACACACACACCCCCCG CCCCACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCACA CACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAM_chr7_141990879_142111747	142042180	CATATTAT others(78): Show CATATTATATATACATATAATATATAACATATTATATATACATATAATAT ATAACATATATTATATATACATATAATATATAACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00621.hp1 others(15): Show HG00099.hp1 HG00423.hp1 HG00621.hp1 HG01106.hp2 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02132.hp1 HG02572.hp1 HG02922.hp1 HG03041.hp2 HG03490.hp2 HG03492.hp2 NA18944.hp2 NA18977.hp1 NA19076.hp2 NA19085.hp2 NA19090.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0016 a0039 a0048 a0068 a0074	a0001c0083 a0001c0096 a0001c0111 others(11): Show a0001c0083 a0001c0096 a0001c0111 a0002c0002 a0002c0101 a0002c0113 a0003c0006 a0005c0008 a0005c0112 a0016c0059 a0039c0058 a0048c0102 a0068c0082 a0074c0150	a0001c0083t0001 a0001c0096t0001 a0001c0111t0001 others(11): Show a0001c0083t0001 a0001c0096t0001 a0001c0111t0001 a0002c0002t0001 a0002c0101t0001 a0002c0113t0001 a0003c0006t0001 a0005c0008t0001 a0005c0112t0001 a0016c0059t0001 a0039c0058t0001 a0048c0102t0001 a0068c0082t0001 a0074c0150t0001	a0001c0083t0001g0193 a0001c0096t0001g0303 a0001c0111t0001g0091 others(15): Show a0001c0083t0001g0193 a0001c0096t0001g0303 a0001c0111t0001g0091 a0002c0002t0001g0204 a0002c0002t0001g0222 a0002c0101t0001g0294 a0002c0113t0001g0160 a0003c0006t0001g0031 a0005c0008t0001g0292 a0005c0008t0001g0293 a0005c0008t0001g0310 a0005c0008t0001g0311 a0005c0112t0001g0271 a0016c0059t0001g0240 a0039c0058t0001g0036 a0048c0102t0001g0308 a0068c0082t0001g0291 a0074c0150t0001g0230	18	316	0.0570	-85	c.249 others(104): Show c.2498+1366_2498+1450delTATATATACATATAATATATAACATA TATTATATATACATATAATATATAACATATATTATATATACATATAATAT ATAACATAT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MLPH_chr2_237482251_237560322	237542785	GGGGGGAC others(78): Show GGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGACAGTGGTGAGTGGCGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02486.hp1 HG02572.hp1 others(9): Show HG02056.hp2 HG02486.hp1 HG02572.hp1 HG02809.hp2 HG02970.hp2 HG03041.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp2 NA18945.hp1 NA19082.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0030	a0001c0001 a0001c0015 a0002c0002 others(5): Show a0001c0001 a0001c0015 a0002c0002 a0002c0051 a0003c0003 a0004c0005 a0008c0011 a0030c0028	a0001c0001t0002 a0001c0015t0008 a0002c0002t0002 others(5): Show a0001c0001t0002 a0001c0015t0008 a0002c0002t0002 a0002c0051t0002 a0003c0003t0001 a0004c0005t0004 a0008c0011t0001 a0030c0028t0001	a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0015t0008g0141 others(9): Show a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0015t0008g0141 a0002c0002t0002g0062 a0002c0002t0002g0085 a0002c0002t0002g0095 a0002c0051t0002g0060 a0003c0003t0001g0229 a0004c0005t0004g0191 a0008c0011t0001g0088 a0008c0011t0001g0089 a0030c0028t0001g0128	12	286	0.0420	-85	c.153 others(102): Show c.1539+146_1539+230delAGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGGACAGTGGTGAGTGGCGGACAGTGGTGAGTGGGGGACAGTGG TGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543213	TTGGGGGA others(78): Show TTGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTAGGGGGACAGTGGTG AATGGGGGACAGTGGTGAATGGGGGACAGTGGTGAG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	286	0.0035	-85	c.153 others(102): Show c.1539+576_1539+660delCACAGTAGTGAGTAGGGGGACAGTGGTG AATGGGGGACAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGT GAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544110	TGGGCACG others(78): Show TGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGTGAGTGGGGGGACAGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0019 a0019	a0019c0025 a0019c0025	a0019c0025t0002 a0019c0025t0002	a0019c0025t0002g0046 a0019c0025t0002g0046	1	286	0.0035	-85	c.153 others(104): Show c.1539+1455_1539+1539delCACGGTGGTGAGTGGAGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAG TGTGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787734	CATATATA others(78): Show CATATATATTATATATATTATATATATCATATATACATATATATTATATA TATCATATATAATATATATTATATATATTATATATA	C C	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18974.hp2 NA18944.hp2 NA18974.hp2	a0003 a0115 a0003 a0115	a0003c0002 a0115c0126 a0003c0002 a0115c0126	a0003c0002t0001 a0115c0126t0001 a0003c0002t0001 a0115c0126t0001	a0003c0002t0001g0311 a0115c0126t0001g0348 a0003c0002t0001g0311 a0115c0126t0001g0348	2	378	0.0053	-85	c.277 others(102): Show c.277-1746_277-1662delTTATATATATCATATATACATATATATT ATATATATCATATATAATATATATTATATATATTATATATAATATATATT ATATATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL22_chr5_154936073_154974411	154936357	CAGTGAGC others(78): Show CAGTGAGCCAAGATCCCGCCATTGCACTCCAGCCTGGGCGACAGAGCCAG ACTCCGTCTCAAAAAAAAAAAAAAAAGTAATTAATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(329): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0002c0003 a0002c0005 a0003c0014 a0004c0010 a0006c0009 a0007c0011 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0007 a0001c0006t0001 a0001c0008t0001 a0001c0012t0002 a0002c0003t0001 a0002c0003t0003 a0002c0005t0001 a0002c0005t0003 a0002c0005t0010 a0003c0014t0002 a0004c0010t0001 a0006c0009t0001 a0007c0011t0001 a0008c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(206): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0003g0024 a0001c0001t0003g0183 a0001c0001t0003g0186 a0001c0001t0005g0171 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0179 a0001c0001t0006g0022 a0001c0001t0006g0111 a0001c0001t0006g0116 a0001c0001t0007g0043 a0001c0001t0007g0123 a0001c0001t0007g0136 a0001c0001t0008g0005 a0001c0001t0008g0112 a0001c0001t0008g0113 a0001c0001t0008g0117 a0001c0001t0009g0188 a0001c0001t0009g0189 a0001c0001t0009g0190 a0001c0001t0011g0124 a0001c0001t0011g0125 a0001c0001t0012g0008 a0001c0001t0013g0001 a0001c0001t0014g0172 a0001c0001t0015g0033 a0001c0001t0016g0196 a0001c0001t0017g0010 a0001c0001t0018g0010 a0001c0001t0019g0007 a0001c0001t0021g0193 a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0102 a0001c0002t0001g0118 a0001c0002t0002g0109 a0001c0002t0003g0003 a0001c0002t0003g0024 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0187 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0004t0001g0042 a0001c0004t0002g0005 a0001c0004t0002g0006 a0001c0004t0002g0019 a0001c0004t0002g0032 a0001c0004t0002g0137 a0001c0004t0007g0034 a0001c0006t0001g0025 a0001c0008t0001g0060 a0001c0012t0002g0155 a0002c0003t0001g0004 a0002c0003t0001g0017 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0142 a0002c0003t0001g0145 a0002c0003t0001g0147 a0002c0003t0003g0180 a0002c0005t0001g0001 a0002c0005t0001g0009 a0002c0005t0003g0003 a0002c0005t0010g0024 a0002c0005t0010g0178 a0003c0014t0002g0005 a0004c0010t0001g0002 a0006c0009t0001g0002 a0007c0011t0001g0009 a0008c0007t0001g0001	332	358	0.9274	-85	c.-47 others(96): Show c.-4753_-4669delAGTGAGCCAAGATCCCGCCATTGCACTCCAGCCT GGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAAAAAGTAATTAAT A	MRPL22	ENSG00000082515.18	transcript	ENST00000523037.6	protein_coding		4715		chr5	TogoVar
MTERF4_chr2_241090571_241107287	241093416	AGCCACAC others(78): Show AGCCACACAGCAAATGCTAATATGCTCCAGTGTTAGCTTAGAAGCCTTGT GTCAACAAGAACTGGCTCCTGAGTCCCAAGCTTGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01358.hp1 HG01433.hp1 others(52): Show HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02074.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03834.hp1 HG06807.hp1 HG06807.hp2 NA18941.hp2 NA18945.hp1 NA18947.hp1 NA18960.hp2 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18988.hp2 NA18993.hp1 NA18997.hp2 NA18999.hp2 NA19064.hp1 NA19070.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0001 a0002c0002t0001 a0005c0005t0001	a0002c0002t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0022 others(5): Show a0002c0002t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0022 a0002c0002t0001g0047 a0002c0002t0001g0057 a0005c0005t0001g0011 a0005c0005t0001g0055 a0005c0005t0001g0056	55	398	0.1382	-85	c.24 others(96): Show c.2497_*2581delACCAAGCTTGGGACTCAGGAGCCAGTTCTTGTTG ACACAAGGCTTCTAAGCTAACACTGGAGCATATTAGCATTTGCTGTGTGG C	MTERF4	ENSG00000122085.17	transcript	ENST00000391980.7	protein_coding		2154		chr2	TogoVar
MUSK_chr9_110663791_110811558	110701675	ATTTTTTT others(78): Show ATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0253	1	326	0.0031	-85	c.628 others(102): Show c.628+4213_628+4297delTTTTTACTTTACTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYADML2_chr17_81934645_81952233	81948294	AGAGCTAC others(78): Show AGAGCTACAGGCCAGCGTCCTCTTCGTGTCCTAGGGCTCGTTTTGTTCCT GGTCCTGCAGGACAGCCTGGGGTCACCGTCACTGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0052 a0002c0002t0002g0052	1	376	0.0027	-85	c.-15 others(96): Show c.-1501_-1417delCGCAGTGACGGTGACCCCAGGCTGTCCTGCAGGA CCAGGAACAAAACGAGCCCTAGGACACGAAGAGGACGCTGGCCTGTAGCT C	MYADML2	ENSG00000185105.5	transcript	ENST00000409745.2	protein_coding		1062		chr17	TogoVar
MYOM2_chr8_2040046_2150456	2086323	CTGCGTGG others(78): Show CTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTG ATCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01261.hp2 HG01106.hp2 HG01261.hp2	a0002 a0002	a0002c0006 a0002c0040 a0002c0006 a0002c0040	a0002c0006t0001 a0002c0040t0001 a0002c0006t0001 a0002c0040t0001	a0002c0006t0001g0006 a0002c0040t0001g0139 a0002c0006t0001g0006 a0002c0040t0001g0139	2	403	0.0050	-85	c.164 others(103): Show c.1644+936_1644+1020delCGTGGCCCCCCACTGTTGTGATCTCTG CGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTGATC TCTGCGTG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086350	CTGCGTGG others(78): Show CTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTG ATCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0125 a0002c0125	a0002c0125t0002 a0002c0125t0002	a0002c0125t0002g0253 a0002c0125t0002g0253	1	403	0.0025	-85	c.164 others(103): Show c.1644+963_1644+1047delCGTGGCCTCCCACTGTTGTGATCTCTG CGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTGATC TCTGCGTG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158668129	TCCTTACC others(78): Show TCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCT CCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	378	0.0027	-85	c.147 others(104): Show c.1479+3300_1480-3380delGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPH2_chr22_50503224_50529780	50504100	CCCCCAGT others(78): Show CCCCCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCCACACCCCACCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	384	0.0026	-85	c.-42 others(96): Show c.-4237_-4153delCCCCAGTGCCCGGCCTTACCCCTGCACCCCAGGC TCCACACCCCACCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC A	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		4123		chr22	TogoVar
NCOR2_chr12_124319415_124572612	124358318	TGAGTGCA others(78): Show TGAGTGCATGGATGTGTGTGTGCCTGTACACAATGTTGAAGGAGGTAACC TGTGATGTGTGTGCACGTGCACGTGCATGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA20905.hp2 HG02602.hp2 NA20905.hp2	a0004 a0021 a0004 a0021	a0004c0007 a0021c0150 a0004c0007 a0021c0150	a0004c0007t0029 a0021c0150t0044 a0004c0007t0029 a0021c0150t0044	a0004c0007t0029g0068 a0021c0150t0044g0079 a0004c0007t0029g0068 a0021c0150t0044g0079	2	234	0.0086	-85	c.310 others(104): Show c.3101-1621_3101-1537delGCACACACATGCACGTGCACGTGCAC ACACATCACAGGTTACCTCCTTCAACATTGTGTACAGGCACACACACATC CATGCACTC	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	24/48			chr12	TogoVar
NME7_chr1_169127531_169372797	169355005	TGTTTATA others(78): Show TGTTTATATATAATATAATTATATATTATATATTATAGATATAATATATA ATATACTATATATTATAGATATAATATATAATATAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02886.hp2 HG02970.hp1 HG01109.hp2 HG02886.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216	3	302	0.0099	-85	c.3+1 others(100): Show c.3+12618_3+12702delGTATATTATATATTATATCTATAATATATA GTATATTATATATTATATCTATAATATATAATATATAATTATATTATATA TAAAC	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NOC4L_chr12_132139457_132157468	132149356	CACACCAC others(78): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0286 a0002c0002t0001g0286	1	294	0.0034	-85	c.901 others(100): Show c.901+462_901+546delACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NRIP3_chr11_8975576_9009001	8978631	GGTCAGCC others(78): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG GTCAGCCCTCCGCCCGGCCAGCCGCCCCATCCGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02129.hp1 HG02132.hp1 HG02040.hp2 HG02129.hp1 HG02132.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0003 a0001c0002t0003 a0002c0003t0003	a0001c0002t0003g0007 a0002c0003t0003g0014 a0001c0002t0003g0007 a0002c0003t0003g0014	3	406	0.0074	-85	c.48 others(96): Show c.4829_*4913delTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTG ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA C	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		1944		chr11	TogoVar
ODF3L2_chr19_458361_479983	458469	AGACGCAT others(78): Show AGACGCATGTTCCGGGGGACGGGGAAGCAGGTTCCGGGGAGGCGGAAGCG GGTCCTGGGGAGGCGGATTCGGGTTCCGGGGAGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00735.hp1 others(16): Show HG00280.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01261.hp1 HG01943.hp2 HG02615.hp1 HG02735.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03927.hp2 HG06807.hp2 NA18906.hp1 NA20752.hp2 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0013 a0004c0006 a0002c0002 a0002c0013 a0004c0006	a0002c0002t0003 a0002c0013t0003 a0004c0006t0003 a0002c0002t0003 a0002c0013t0003 a0004c0006t0003	a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0032 others(9): Show a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0032 a0002c0002t0003g0087 a0002c0002t0003g0090 a0002c0002t0003g0091 a0002c0002t0003g0095 a0002c0002t0003g0099 a0002c0002t0003g0128 a0002c0013t0003g0131 a0002c0013t0003g0132 a0004c0006t0003g0088	19	324	0.0586	-85	c.52 others(96): Show c.5290_*5374delCACCTCCCCGGAACCCGAATCCGCCTCCCCAGGA CCCGCTTCCGCCTCCCCGGAACCTGCTTCCCCGTCCCCCGGAACATGCGT C	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4891		chr19	TogoVar

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